Publications

Although primarily a diagnostic medical laboratory, the IGENZ team collaborates extensively with colleagues both locally and internationally and in doing so has contributed to many publications.

Assessing copy number abnormalities and copy-neutral loss-of-heterozygosity across the genome as best practice in diagnostic evaluation of acute myeloid leukemia: An evidence-based review from the cancer genomics consortium (CGC) myeloid neoplasms working group (2018)
https://pubmed.ncbi.nlm.nih.gov/30344013/

Assessing copy number aberrations and copy neutral loss of heterozygosity across the genome as best practice: An evidence based review of clinical utility from the cancer genomics consortium (CGC) working group for myelodysplastic syndrome, myelodysplastic/myeloproliferative and myeloproliferative neoplasms (2018)
https://pubmed.ncbi.nlm.nih.gov/30377088/

Detection of complex genomic signatures associated with risk in plasma cell disorders (2017)
https://pubmed.ncbi.nlm.nih.gov/29153091/

Emerging Technologies in Paediatric Leukaemia (2015):
https://pubmed.ncbi.nlm.nih.gov/26835367/

FISH detection of PML-RARA fusion in ins(15;17) acute promyelocytic leukaemia depends on probe size (2013)
https://pubmed.ncbi.nlm.nih.gov/23607089/

IgE-type multiple myeloma with the late development of IgA2 kappa and plasma cell leukaemia (2010)
https://pubmed.ncbi.nlm.nih.gov/20025486/

Distinctive patterns of microRNA expression associated with karyotype in acute myeloid leukaemia (2008)
https://pubmed.ncbi.nlm.nih.gov/18478077/

AIDS-related plasmablastic lymphoma of the oral cavity associated with an IGH/MYC translocation–treatment with autologous stem-cell transplantation in a patient with severe haemophilia-A (2007)
https://pubmed.ncbi.nlm.nih.gov/17405744/

MicroRNA miR-181a correlates with morphological sub-class of acute myeloid leukaemia and the expression of its target genes in global genome-wide analysis (2007)
https://pubmed.ncbi.nlm.nih.gov/17330104/

Myelodysplastic syndrome associated with trisomy 2 (2002)
https://pubmed.ncbi.nlm.nih.gov/16048496/

Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2 (2003)
https://pubmed.ncbi.nlm.nih.gov/12661007/

Deletion of the long arm of chromosome 20 in a patient with small cell lymphocytic lymphoma (1993)
https://pubmed.ncbi.nlm.nih.gov/7694789/

Myelodysplastic syndrome and trisomy 14q (1992)
https://pubmed.ncbi.nlm.nih.gov/1458455/

Screening for anaplastic lymphoma kinase (ALK) gene rearrangements in non-small-cell lung cancer in New Zealand (2020)
https://pubmed.ncbi.nlm.nih.gov/31318119/

NRASQ61R Mutation-specific Immunohistochemistry is Highly Specific for Either NRASQ61R or KRASQ61R Mutation in Colorectal Carcinoma (2017)
https://pubmed.ncbi.nlm.nih.gov/26862952/

Analysis of molecular cytogenetic changes in metastatic renal cell carcinoma in the setting of everolimus treatment: a pilot project (2014)
https://pubmed.ncbi.nlm.nih.gov/24524969/

Differentiation between malignant melanoma and Spitz tumour has improved over the past decade due to modern pathological techniques (2013)
https://pubmed.ncbi.nlm.nih.gov/24150269/

Muir-Torre syndrome-associated pleomorphic liposarcoma arising in a previous radiation field (2013)
https://pubmed.ncbi.nlm.nih.gov/23299928/

Enduring response to everolimus as third-line therapy in a patient with advanced renal cell carcinoma, including small-bowel metastases: loss of FHIT but normal VHL gene status (2012)
https://pubmed.ncbi.nlm.nih.gov/22440786/

Retrospective review of prognostic factors, including 1p19q deletion, in low-grade oligodendrogliomas and a review of recent published works (2009)
https://pubmed.ncbi.nlm.nih.gov/19624298/

HER2 Polysomy in aggressive head and neck cutaneous squamous cell carcinoma (2009)
https://pubmed.ncbi.nlm.nih.gov/19269011/

Cervical intraepithelial neoplasia and aneusomy of TERC: assessment of liquid-based cytological preparations (2009)
https://pubmed.ncbi.nlm.nih.gov/19191295/

Dermatofibrosarcoma protuberans: report of a case with a variant ring chromosome and metastases following pregnancy (2006)

ATR-16 syndrome: mechanisms linking monosomy to phenotype (2020)
https://pubmed.ncbi.nlm.nih.gov/32005695/

Epiphyseal dysplasia and other skeletal anomalies in a patient with the 6p25 microdeletion syndrome (2006)
https://pubmed.ncbi.nlm.nih.gov/16906570/

Another case of interstitial del(12) involving the proposed cardio-facio-cutaneous candidate region (2005)
https://pubmed.ncbi.nlm.nih.gov/15889419/

Partial tetrasomy 15 due to a unique inverted triplication of chromosome15q24-q26 (2004)
https://pubmed.ncbi.nlm.nih.gov/15372521/

Severe musculoskeletal phenotype associated with an unbalanced t(6;10) translocation: clarification of the locus for this phenotype on distal 6p (2003)
https://pubmed.ncbi.nlm.nih.gov/12784294/

False-positive diagnosis of trisomy 21 using fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells (2003)
https://pubmed.ncbi.nlm.nih.gov/12673634/

A rare case of a de novo dup(19q) associated with a mild phenotype (2002)
https://pubmed.ncbi.nlm.nih.gov/12362043/

Supernumerary marker chromosomes 5: confirmation of a critical region and resultant phenotype
https://pubmed.ncbi.nlm.nih.gov/12124728/

Prenatal diagnosis of partial tetrasomy 14: a case study (2002)
https://pubmed.ncbi.nlm.nih.gov/11857618/

Interstitial deletion of 3p22.2-p24.2: the first reported case (2001)
https://pubmed.ncbi.nlm.nih.gov/11403048/

Homozygous deletion of SHOX in a mentally retarded male with Langer mesomelic dysplasia (2000)
https://pubmed.ncbi.nlm.nih.gov/11186941/

Trisomy of 3pter in a patient with apparent C (trigonocephaly) syndrome (2000)
https://pubmed.ncbi.nlm.nih.gov/11038445/

The use of a specific clinical history in counselling a family with the balanced translocation 46,XY,t(4;12)(p15.2;q21.3): viable offspring with partial monosomy 4p and trisomy 12q (1998)
https://pubmed.ncbi.nlm.nih.gov/9727755/

Trisomy 2q11.2–>q21.1 resulting from an unbalanced insertion in two generations (1998)
https://pubmed.ncbi.nlm.nih.gov/9598728/

Mosaicism with a normal cell line and an autosomal structural rearrangement (1994)
https://pubmed.ncbi.nlm.nih.gov/8182714/

Validation of a molecular assay to detect SARS-CoV-2 in saliva (2021)
https://pubmed.ncbi.nlm.nih.gov/35728108/

MicroRNA detection in bone marrow cells by LNA-FISH (2010)
https://pubmed.ncbi.nlm.nih.gov/20827525/

Radiosensitivity of new and established human melanoma cell lines: comparison of [3H]thymidine incorporation and soft agar clonogenic assays (1994)
https://pubmed.ncbi.nlm.nih.gov/7999427/